Canonical Allele Identifier: CA2666142678

Gene: CACNA1D

Linked Data

• gnomAD v4: 3-53811361-T-TGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53811367_53811369dup , CM000665.2:g.53811367_53811369dup	GRCh38
NC_000003.11:g.53845394_53845396dup , CM000665.1:g.53845394_53845396dup	GRCh37
NC_000003.10:g.53820434_53820436dup	NCBI36
NG_032999.1:g.321319_321321dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.6507_6509dup	ENSP00000418014.2:p.Glu2169_Asp2170insGlu
ENST00000636581.2:n.1836_1838dup
ENST00000636633.2:n.3446_3448dup
ENST00000636999.2:n.1882_1884dup
ENST00000288139.11:c.6507_6509dup MANE Plus Clinical	ENSP00000288139.3:p.Glu2169_Asp2170insGlu
ENST00000350061.11:c.6447_6449dup MANE Select	ENSP00000288133.5:p.Glu2149_Asp2150insGlu
ENST00000422281.7:c.6375_6377dup	ENSP00000409174.2:p.Glu2125_Asp2126insGlu
ENST00000636448.1:c.2568_2570dup
ENST00000636570.1:c.6402_6404dup	ENSP00000490183.1:p.Glu2134_Asp2135insGlu
ENST00000636581.1:n.1836_1838dup
ENST00000636633.1:n.3446_3448dup
ENST00000636999.1:n.1874_1876dup
ENST00000637424.1:c.6474_6476dup	ENSP00000489769.1:p.Glu2158_Asp2159insGlu
ENST00000288139.8:c.6507_6509dup	ENSP00000288139.3:p.Glu2169_Asp2170insGlu
ENST00000350061.9:c.6447_6449dup	ENSP00000288133.5:p.Glu2149_Asp2150insGlu
ENST00000422281.6:c.6375_6377dup	ENSP00000409174.2:p.Glu2125_Asp2126insGlu
ENST00000481478.1:c.5526_5528dup	ENSP00000418014.1:p.Glu1842_Asp1843insGlu
NM_000720.3:c.6507_6509dup	NP_000711.1:p.Glu2169_Asp2170insGlu
NM_001128839.2:c.6375_6377dup	NP_001122311.1:p.Glu2125_Asp2126insGlu
NM_001128840.2:c.6447_6449dup	NP_001122312.1:p.Glu2149_Asp2150insGlu
XM_005265448.2:c.6402_6404dup	XP_005265505.1:p.Glu2134_Asp2135insGlu
XM_011534094.1:c.6702_6704dup	XP_011532396.1:p.Glu2234_Asp2235insGlu
XM_011534095.1:c.6591_6593dup	XP_011532397.1:p.Glu2197_Asp2198insGlu
XM_011534096.1:c.6513_6515dup	XP_011532398.1:p.Glu2171_Asp2172insGlu
XM_011534097.1:c.6165_6167dup	XP_011532399.1:p.Glu2055_Asp2056insGlu
XM_011534098.1:c.6165_6167dup	XP_011532400.1:p.Glu2055_Asp2056insGlu
XM_011534099.1:c.5790_5792dup	XP_011532401.1:p.Glu1930_Asp1931insGlu
XM_011534100.1:c.6597_6599dup	XP_011532402.1:p.Glu2199_Asp2200insGlu
XM_005265448.3:c.6402_6404dup	XP_005265505.1:p.Glu2134_Asp2135insGlu
XM_011534094.2:c.6702_6704dup	XP_011532396.1:p.Glu2234_Asp2235insGlu
XM_011534096.2:c.6513_6515dup	XP_011532398.1:p.Glu2171_Asp2172insGlu
XM_011534097.2:c.6165_6167dup	XP_011532399.1:p.Glu2055_Asp2056insGlu
XM_011534099.2:c.5790_5792dup	XP_011532401.1:p.Glu1930_Asp1931insGlu
XM_011534100.2:c.6597_6599dup	XP_011532402.1:p.Glu2199_Asp2200insGlu
XM_017007137.1:c.6702_6704dup	XP_016862626.1:p.Glu2234_Asp2235insGlu
XM_017007138.1:c.6699_6701dup	XP_016862627.1:p.Glu2233_Asp2234insGlu
XM_017007139.1:c.6675_6677dup	XP_016862628.1:p.Glu2225_Asp2226insGlu
XM_017007140.1:c.6642_6644dup	XP_016862629.1:p.Glu2214_Asp2215insGlu
XM_017007141.1:c.6642_6644dup	XP_016862630.1:p.Glu2214_Asp2215insGlu
XM_017007142.1:c.6618_6620dup	XP_016862631.1:p.Glu2206_Asp2207insGlu
XM_017007143.1:c.6618_6620dup	XP_016862632.1:p.Glu2206_Asp2207insGlu
XM_017007144.1:c.6618_6620dup	XP_016862633.1:p.Glu2206_Asp2207insGlu
XM_017007145.1:c.6573_6575dup	XP_016862634.1:p.Glu2191_Asp2192insGlu
NM_001128840.3:c.6447_6449dup MANE Select	NP_001122312.1:p.Glu2149_Asp2150insGlu
NM_000720.4:c.6507_6509dup MANE Plus Clinical	NP_000711.1:p.Glu2169_Asp2170insGlu
NM_001128839.3:c.6375_6377dup	NP_001122311.1:p.Glu2125_Asp2126insGlu